Yuxin Fan, MD, PhD, FACMG

Personal Statement

I always do my best to provide the best clinical molecular genetic diagnostic services possible.

Clinical Interests:

My clinical interests mainly involve in the development and implantation of molecular genetic diagnosis of inherited human diseases, especially cardiovascular disorders using Sanger sequencing, next generation sequencing (NGS) and array-based comparative genomic hybridization (aCGH). I am also interested in developing viral testing for the molecular diagnosis of myocarditis and for the molecular monitoring of heart transplant rejection.

Research Interests:

My research interests have been focused on cardiovascular genetics, especially on the genetic screening for new genes related to cardiovascular disease and on the understating of mechanisms behind inherited cardiomyopathy using cellular and knock-in/out animal models.

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* Texas Children’s Hospital physicians’ licenses and credentials are reviewed prior to practicing at any of our facilities. Sections titled From the Doctor, Professional Organizations and Publications were provided by the physician’s office and were not verified by Texas Children’s Hospital.

Wang G, Knight L, Ji R, Lawrence P, Kanaan U, Li L, Das A, Cui B, Zou W, Penny DJ, Fan Y. Early onset severe pulmonary arterial hypertension with 'two-hit' digenic mutations in both BMPR2 and KCNA5 genes.Int J Cardiol 2014 Aug 28. pii: S01675273(14)01671-4. doi: 10.1016/j.ijcard.2014.08.124. [Epub ahead of print].

Chiang DY, Kim JJ, Valdes SO, de la Uz C, Fan Y, Orcutt J, Domino M, Smith M, Wehrens XH, Miyake CY. Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture. Circ Arrhythm Electrophysiol 2015 Oct;8(5):1105-12. doi: 10.1161/CIRCEP.115.003098. Epub 2015 Jun 25.

Wang G, Fan R, Ji R, Zou W, Penny DJ, Varghese N, Fan Y. Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension. BMC Pulm Med 2016 Jan 22;16(1):17. doi: 10.1186/s12890-016-0183-7.

Landstrom AP, Dailey-Schwartz AL, Rosenfeld JA, Yang Y, McLean MJ, Miyake CY, Valdes SO, Fan Y, Hugh D. Allen HD MD, Penny DJ, Kim JJ. Interpreting incidentally identified variants in genes associated with catecholaminergic polymorphic ventricular tachycardia in a large cohort of clinical whole exome genetic test referrals. 2017 Apr;10(4). pii: e004742. doi: 10.1161/ Circ Arrhythm Electrophysiol CIRCEP.116.004742.

Guo DC, Hostetler EM, Fan Y, Kulmacz RJ, Zhang D; GenTAC Investigators, Nickerson DA, Leal SM, LeMaire SA, Regalado ES, Milewicz DM. Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection. J Am Coll Cardiol 2017 Nov 28;70(21):2728-2730. doi: 10.1016/j.jacc.2017.09.1094.

Guoliang Wang, Wenxin Zou, Ruirui Ji, Vivian Niewiadonski, Jianping Li, Daniel J. Penny, Yuxin Fan. "Application of NGS in the Diagnosis of Cardiovascular Genetic Diseases" in Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders (978-3-319-56416-6 330836_1_En) edited by Lee-Jun Wong, et al published by Springer Nature,2017. (Book Chapter).

Ezekian J, Clippinger S, Garcia J, Yang Q, Denfield S, Jeewa A, Dreyer J, Zou W, Fan Y, Allen H, Kim J, Greenberg M, Landstrom A. The variant R94C in TNNT2-encoded troponin T predisposes to pediatric restrictive cardiomypathy and sudden death through impaired thin filament relaxation result